Canonical Allele Identifier: CA478845268

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1113832
• ClinVar RCV Id: RCV001441363
• dbSNP Id: rs1946485318
• MyVariant Identifiers: chr12:g.12870779A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717845A>T , CM000674.2:g.12717845A>T	GRCh38
NC_000012.11:g.12870779A>T , CM000674.1:g.12870779A>T	GRCh37
NC_000012.10:g.12762046A>T	NCBI36
NG_016341.1:g.5478A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.6A>T	ENSP00000507272.1:p.Ser2=
ENST00000682620.1:n.1631-980A>T
ENST00000684771.1:n.585-980A>T
ENST00000228872.9:c.6A>T MANE Select	ENSP00000228872.4:p.Ser2=
ENST00000228872.8:c.6A>T	ENSP00000228872.4:p.Ser2=
ENST00000396340.1:c.6A>T	ENSP00000379629.1:p.Ser2=
ENST00000477087.1:n.155-980A>T
NM_004064.4:c.6A>T	NP_004055.1:p.Ser2=
NM_004064.5:c.6A>T MANE Select	NP_004055.1:p.Ser2=